Mutations in Colorectal Polyps and Cancer
Author Information
Author(s): Velho Sérgia, Moutinho Cátia, Cirnes Luís, Albuquerque Cristina, Hamelin Richard, Schmitt Fernando, Carneiro Fátima, Oliveira Carla, Seruca Raquel
Primary Institution: Institute of Molecular Pathology and Immunology, University of Porto, Portugal
Hypothesis
To determine the frequency of KRAS, BRAF and PIK3CA mutations in the process of colorectal tumourigenesis.
Conclusion
BRAF, KRAS and PIK3CA mutations occur prior to malignant transformation, indicating they are primary genetic events in colorectal carcinogenesis.
Supporting Evidence
- KRAS, PIK3CA or BRAF mutations occur in 71% of polyps.
- KRAS mutations occur in 35% of polyps.
- BRAF mutations occur in 29% of cases, all classified as serrated adenoma.
- CIMP phenotype occurred in 25% of the polyps, all mutated for BRAF.
- The frequency of BRAF mutations in serrated polyps is similar to that in MSI CRC.
Takeaway
This study found that certain mutations in colorectal polyps happen before cancer develops, showing they are important early changes in the disease.
Methodology
Mutation analyses were performed by PCR/sequencing, and bisulfite treated DNA was used to study CIMP and MLH1 methylation.
Potential Biases
None reported.
Limitations
The study is retrospective and may not account for all variables influencing mutation frequency.
Participant Demographics
Patients included had no positive family history.
Statistical Information
P-Value
0.0191
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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